YIPF1[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	LOC129388541, LOC129388542 +570 more	Copy number gain	See cases	GPathogenic
Select item 153325	GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3	ACOT11, AK4 +421 more	Copy number gain	See cases	GLikely pathogenic
Select item 150647	GRCh38/hg38 1p32.3-31.3(chr1:53627272-64248854)x1	ACOT11, ALG6 +280 more	Copy number loss	See cases	GPathogenic
Select item 59968	GRCh38/hg38 1p32.3-31.3(chr1:53738212-61439648)x1	ACOT11, BSND +205 more	Copy number loss	See cases	GPathogenic
Select item 153752	GRCh38/hg38 1p32.3(chr1:53823735-54328113)x3	CDCP2, CYB5RL +27 more	Copy number gain	See cases	GUncertain significance
Select item 2542917	NM_018982.5(YIPF1):c.872C>T (p.Thr291Ile)	YIPF1 (T291I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191501	NM_018982.5(YIPF1):c.832G>C (p.Ala278Pro)	YIPF1 (A278P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287422	NM_018982.5(YIPF1):c.826T>C (p.Cys276Arg)	YIPF1 (C276R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191500	NM_018982.5(YIPF1):c.767G>A (p.Arg256His)	YIPF1 (R256H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365205	NM_018982.5(YIPF1):c.751C>T (p.Arg251Cys)	YIPF1 (R251C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191499	NM_018982.5(YIPF1):c.731T>C (p.Met244Thr)	YIPF1 (M244T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607869	NM_018982.5(YIPF1):c.667C>G (p.Gln223Glu)	YIPF1 (Q223E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613858	NM_018982.5(YIPF1):c.596T>C (p.Leu199Pro)	YIPF1 (L199P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191497	NM_018982.5(YIPF1):c.470A>G (p.Glu157Gly)	YIPF1 (E157G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191496	NM_018982.5(YIPF1):c.452C>T (p.Thr151Met)	YIPF1 (T151M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546681	NM_018982.5(YIPF1):c.445G>A (p.Glu149Lys)	YIPF1 (E149K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191495	NM_018982.5(YIPF1):c.439C>G (p.Leu147Val)	YIPF1 (L147V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191494	NM_018982.5(YIPF1):c.386C>T (p.Thr129Met)	YIPF1 (T129M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191493	NM_018982.5(YIPF1):c.343C>T (p.Arg115Cys)	YIPF1 (R115C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2495153	NM_018982.5(YIPF1):c.317G>C (p.Gly106Ala)	YIPF1 (G106A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270246	NM_018982.5(YIPF1):c.263T>C (p.Val88Ala)	YIPF1 (V88A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246238	NM_018982.5(YIPF1):c.224C>G (p.Pro75Arg)	YIPF1 (P75R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331485	NM_018982.5(YIPF1):c.150A>C (p.Glu50Asp)	YIPF1 (E50D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381449	NM_018982.5(YIPF1):c.124G>C (p.Gly42Arg)	YIPF1 (G42R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618320	NM_018982.5(YIPF1):c.100G>C (p.Gly34Arg)	YIPF1 (G34R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370435	NM_018982.5(YIPF1):c.67C>A (p.Pro23Thr)	YIPF1 (P23T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594563	NM_018982.5(YIPF1):c.49A>G (p.Thr17Ala)	YIPF1 (T17A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062755	GRCh37/hg19 1p33-32.2(chr1:47493178-57042671)x3	ACOT11, AGBL4 +72 more	Copy number gain	not specified	GLikely pathogenic
Select item 1047872	GRCh37/hg19 1p32.3-32.2(chr1:51941877-56688514)	CYB5RL, EPS15 +49 more	Copy number loss	Abnormality of the kidney +1 more	GPathogenic
Select item 981205	GRCh37/hg19 1p32.3-31.3(chr1:53675707-66644963)x1	JUN, KANK4 +67 more	Copy number loss	Chromosome 1p32-p31 deletion syndrome	GPathogenic
Select item 685398	GRCh37/hg19 1p32.3(chr1:54002963-54575440)x3	DIO1, GLIS1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 394094	GRCh37/hg19 1p32.3(chr1:51729573-55164001)x1	LRP8, LRRC42 +42 more	Copy number loss	See cases	GPathogenic

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Items: 36